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[醛固酮合成酶基因(CYP11B2)多态性与中国北方汉族人群原发性高血压的关系]

[Relationship between aldosterone synthase gene (CYP11B2) polymorphisms and essential hypertension in a northern Chinese Han population].

作者信息

Niu Wen-quan, Wang Jian-bing, Li Su-jie, Zhou Wen-yu, Zhao Jing-bo, Qiu Chang-chun

机构信息

National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China.

出版信息

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2007 Jun;29(3):329-35.

Abstract

OBJECTIVE

To explore the relationship between genetic polymorphisms of C-344T in the promoter region and K173R in the exon 3 of aldosterone synthase gene (CYP11B2) and the incidence of essential hypertension in a northern Chinese Han population.

METHODS

We conducted a case-control study including 182 hypertensive patients and 189 healthy controls in Harbin newspaper office and assayed the genotypes of C-344T and K173R using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing technology.

RESULTS

The distributions of C-344T and K173R genotype frequencies in men and women were in accordance with the Hardy-Weinberg equilibrium. The differences of C-344T allele and genotype as well as K173R allele frequency distributions between hypertensive patients and healthy controls were not statistically significant in men and women and pooled population (P > or = 0.05). The difference of K173R genotype frequency distribution reached borderline significance (P = 0.0500) and was more pronounced in women (P = 0.0038) according to the dominant mode of inheritance. Moreover, the magnitude of this mode of inheritance was more remarkable after the confounding factors were adjusted. K173R statistically correlated with the systolic hypertension in women.

CONCLUSION

The CYP11B2 K173R polymorphism correlates with the susceptibility of essential hypertension in the northern Chinese Han population.

摘要

目的

探讨醛固酮合酶基因(CYP11B2)启动子区C-344T及外显子3区K173R基因多态性与中国北方汉族人群原发性高血压发病的关系。

方法

在哈尔滨日报社开展病例对照研究,纳入182例高血压患者及189例健康对照,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)及直接测序技术检测C-344T和K173R基因型。

结果

C-344T和K173R基因型频率在男性和女性中的分布均符合Hardy-Weinberg平衡。高血压患者与健康对照之间,C-344T等位基因、基因型以及K173R等位基因频率分布在男性、女性及合并人群中差异均无统计学意义(P≥0.05)。按照显性遗传模式,K173R基因型频率分布差异达到临界显著水平(P=0.0500),在女性中更显著(P=0.0038)。此外,调整混杂因素后,这种遗传模式的差异更明显。K173R与女性收缩期高血压具有统计学相关性。

结论

CYP11B2基因K173R多态性与中国北方汉族人群原发性高血压易感性相关。

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